Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila

Holly J. Thorpe, Brent S. Pedersen, Miranda Dietze, Nichole Link, Aaron R. Quinlan, Joshua L. Bonkowsky, Ashley Thomas, Clement Y. Chow. bioRxiv 2024.08.12.607501; doi: https://doi.org/10.1101/2024.08.12.607501